Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52811817C>T , CM000674.2:g.52811817C>T | GRCh38 |
| NC_000012.11:g.53205601C>T , CM000674.1:g.53205601C>T | GRCh37 |
| NC_000012.10:g.51491868C>T | NCBI36 |
| NG_007380.1:g.7735G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551956.2:c.623G>A MANE Select | ENSP00000448220.1:p.Arg208His | |
| ENST00000548097.5:c.*135G>A | ENSP00000449755.1:n.*135G>A | |
| ENST00000551436.1:n.181G>A | ||
| ENST00000551956.1:c.623G>A | ENSP00000448220.1:p.Arg208His | |
| ENST00000552668.1:c.*83-1001G>A | ENSP00000447320.1:n.*83-1001G>A | |
| NM_002272.3:c.623G>A | NP_002263.3:p.Arg208His | |
| NM_002272.4:c.623G>A MANE Select | NP_002263.3:p.Arg208His |